| - GRCh37:
- Chr12:110232281
- GRCh38:
- Chr12:109794476
| TRPV4 | E341D, E388D, E401D, E414D, E448D | Scapuloperoneal spinal muscular atrophy | Uncertain significance
(Dec 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:110226401
- GRCh38:
- Chr12:109788596
| TRPV4 | L564P, L671P, L624P, L637P, L611P | Inborn genetic diseases, Scapuloperoneal spinal muscular atrophy | Conflicting interpretations of pathogenicity
(Aug 18, 2020) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:110231356
- GRCh38:
- Chr12:109793551
| TRPV4 | I438N, I485N, I498N, I511N, I545N | Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2C, not provided
| Uncertain significance
(May 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110252412
- GRCh38:
- Chr12:109814607
| TRPV4 | R30*, R64* | Familial digital arthropathy-brachydactyly, Scapuloperoneal spinal muscular atrophy, Avascular necrosis of femoral head, primary, 2,
Spondylometaphyseal dysplasia, Kozlowski type, Sodium serum level quantitative trait locus 1, Charcot-Marie-Tooth disease axonal type 2C,
Brachyrachia (short spine dysplasia), Metatropic dysplasia, Parastremmatic dwarfism,
Spondyloepimetaphyseal dysplasia, Maroteaux type, Autosomal dominant congenital benign spinal muscular atrophyCharcot-Marie-Tooth disease axonal type 2C,
...see more | Uncertain significance
(Feb 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110221424
- GRCh38:
- Chr12:109783619
| TRPV4 | | Charcot-Marie-Tooth disease axonal type 2C, Brachyrachia (short spine dysplasia), Spondylometaphyseal dysplasia, Kozlowski type,
Metatropic dysplasia, Autosomal dominant congenital benign spinal muscular atrophy, Scapuloperoneal spinal muscular atrophy
| Uncertain significance
(Mar 2, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:110271182
- GRCh38:
- Chr12:109833377
| MIR4497, TRPV4 | | Autosomal dominant congenital benign spinal muscular atrophy, Charcot-Marie-Tooth disease axonal type 2C, Brachyrachia (short spine dysplasia),
Scapuloperoneal spinal muscular atrophy, Spondylometaphyseal dysplasia, Kozlowski type, Metatropic dysplasia
| Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:110221236
- GRCh38:
- Chr12:109783431
| TRPV4 | | Autosomal dominant congenital benign spinal muscular atrophy, Charcot-Marie-Tooth disease axonal type 2C, Brachyrachia (short spine dysplasia),
Scapuloperoneal spinal muscular atrophy, Spondylometaphyseal dysplasia, Kozlowski type, Metatropic dysplasia
| Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:110238464
- GRCh38:
- Chr12:109800659
| TRPV4 | R237H, R271H | Inborn genetic diseases, Scapuloperoneal spinal muscular atrophy, Charcot-Marie-Tooth disease axonal type 2C,
Metatropic dysplasia, Brachyrachia (short spine dysplasia), Autosomal dominant congenital benign spinal muscular atrophy,
Spondylometaphyseal dysplasia, Kozlowski type | Conflicting interpretations of pathogenicity
(Jun 21, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:110222146
- GRCh38:
- Chr12:109784341
| TRPV4 | | Charcot-Marie-Tooth disease axonal type 2C, Autosomal dominant congenital benign spinal muscular atrophy, Brachyrachia (short spine dysplasia),
Scapuloperoneal spinal muscular atrophy, Metatropic dysplasia, Spondylometaphyseal dysplasia, Kozlowski type
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:110221199
- GRCh38:
- Chr12:109783394
| TRPV4 | | Autosomal dominant congenital benign spinal muscular atrophy, Brachyrachia (short spine dysplasia), Spondylometaphyseal dysplasia, Kozlowski type,
Scapuloperoneal spinal muscular atrophy, Charcot-Marie-Tooth disease axonal type 2C, Metatropic dysplasia
| Uncertain significance
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr12:110246235
- GRCh38:
- Chr12:109808430
| TRPV4 | P142L, P108L | Charcot-Marie-Tooth disease axonal type 2C, not provided, Metatropic dysplasia,
Scapuloperoneal spinal muscular atrophy, Autosomal dominant congenital benign spinal muscular atrophy, Brachyrachia (short spine dysplasia),
Charcot-Marie-Tooth disease, Spondylometaphyseal dysplasia, Kozlowski type | Uncertain significance
(Mar 28, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110220926
- GRCh38:
- Chr12:109783121
| TRPV4 | | Metatropic dysplasia, Spondylometaphyseal dysplasia, Kozlowski type, Scapuloperoneal spinal muscular atrophy,
Charcot-Marie-Tooth disease axonal type 2C, Autosomal dominant congenital benign spinal muscular atrophy, Brachyrachia (short spine dysplasia)
| Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:110271215
- GRCh38:
- Chr12:109833410
| MIR4497, TRPV4 | | Spondylometaphyseal dysplasia, Kozlowski type, Metatropic dysplasia, Autosomal dominant congenital benign spinal muscular atrophy,
Charcot-Marie-Tooth disease axonal type 2C, Brachyrachia (short spine dysplasia), Scapuloperoneal spinal muscular atrophy
| Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:110221343
- GRCh38:
- Chr12:109783538
| TRPV4 | | Metatropic dysplasia, Charcot-Marie-Tooth disease axonal type 2C, Brachyrachia (short spine dysplasia),
Spondylometaphyseal dysplasia, Kozlowski type, Scapuloperoneal spinal muscular atrophy, Autosomal dominant congenital benign spinal muscular atrophy
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:110221281
- GRCh38:
- Chr12:109783476
| TRPV4 | | Charcot-Marie-Tooth disease axonal type 2C, Metatropic dysplasia, Brachyrachia (short spine dysplasia),
Autosomal dominant congenital benign spinal muscular atrophy, Spondylometaphyseal dysplasia, Kozlowski type, Scapuloperoneal spinal muscular atrophy
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:110221123
- GRCh38:
- Chr12:109783318
| TRPV4 | | Charcot-Marie-Tooth disease axonal type 2C, Metatropic dysplasia, Scapuloperoneal spinal muscular atrophy,
Autosomal dominant congenital benign spinal muscular atrophy, Brachyrachia (short spine dysplasia), Spondylometaphyseal dysplasia, Kozlowski type
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:110252407
- GRCh38:
- Chr12:109814602
| TRPV4 | | Charcot-Marie-Tooth disease axonal type 2C, Metatropic dysplasia, Brachyrachia (short spine dysplasia),
Scapuloperoneal spinal muscular atrophy, Autosomal dominant congenital benign spinal muscular atrophy, Spondylometaphyseal dysplasia, Kozlowski type
| Conflicting interpretations of pathogenicity
(Apr 15, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:110221015
- GRCh38:
- Chr12:109783210
| TRPV4 | | Metatropic dysplasia, Spondylometaphyseal dysplasia, Kozlowski type, Brachyrachia (short spine dysplasia),
Scapuloperoneal spinal muscular atrophy, Charcot-Marie-Tooth disease axonal type 2C, Autosomal dominant congenital benign spinal muscular atrophy
| Uncertain significance
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr12:110221005
- GRCh38:
- Chr12:109783200
| TRPV4 | | Metatropic dysplasia, Charcot-Marie-Tooth disease axonal type 2C, Brachyrachia (short spine dysplasia),
Scapuloperoneal spinal muscular atrophy, Spondylometaphyseal dysplasia, Kozlowski type, Autosomal dominant congenital benign spinal muscular atrophy
| Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:110246158
- GRCh38:
- Chr12:109808353
| TRPV4 | G168R, G134R | Charcot-Marie-Tooth disease axonal type 2C, Metatropic dysplasia, Brachyrachia (short spine dysplasia),
Scapuloperoneal spinal muscular atrophy, Autosomal dominant congenital benign spinal muscular atrophy, Spondylometaphyseal dysplasia, Kozlowski type
| Uncertain significance
(Sep 24, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110238534
- GRCh38:
- Chr12:109800729
| TRPV4 | R248C, R214C | Charcot-Marie-Tooth disease axonal type 2C, Brachyrachia (short spine dysplasia), Inborn genetic diseases,
Metatropic dysplasia, Autosomal dominant congenital benign spinal muscular atrophy, Scapuloperoneal spinal muscular atrophy,
Spondylometaphyseal dysplasia, Kozlowski type | Conflicting interpretations of pathogenicity
(Sep 29, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:110238479
- GRCh38:
- Chr12:109800674
| TRPV4 | A232V, A266V | Charcot-Marie-Tooth disease axonal type 2C, Autosomal dominant congenital benign spinal muscular atrophy, Brachyrachia (short spine dysplasia),
Scapuloperoneal spinal muscular atrophy, Metatropic dysplasia, Spondylometaphyseal dysplasia, Kozlowski type
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:110224593
- GRCh38:
- Chr12:109786788
| TRPV4 | R693K, R646K, R706K, R719K, R753K | Brachyrachia (short spine dysplasia), Spondylometaphyseal dysplasia, Kozlowski type, Metatropic dysplasia,
Scapuloperoneal spinal muscular atrophy, Autosomal dominant congenital benign spinal muscular atrophy, Charcot-Marie-Tooth disease axonal type 2C
| Uncertain significance
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr12:110222140
- GRCh38:
- Chr12:109784335
| TRPV4 | | not provided, Scapuloperoneal spinal muscular atrophy, Brachyrachia (short spine dysplasia),
Spondylometaphyseal dysplasia, Kozlowski type, Metatropic dysplasia, Autosomal dominant congenital benign spinal muscular atrophy,
Charcot-Marie-Tooth disease axonal type 2C | Conflicting interpretations of pathogenicity
(Jul 5, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:110252400
- GRCh38:
- Chr12:109814595
| TRPV4 | R34C, R68C | Familial digital arthropathy-brachydactyly, Spondylometaphyseal dysplasia, Kozlowski type, Scapuloperoneal spinal muscular atrophy,
Avascular necrosis of femoral head, primary, 2, Brachyrachia (short spine dysplasia), Spondyloepimetaphyseal dysplasia, Maroteaux type,
Autosomal dominant congenital benign spinal muscular atrophy, Sodium serum level quantitative trait locus 1, Charcot-Marie-Tooth disease axonal type 2C,
Metatropic dysplasia, Parastremmatic dwarfismCharcot-Marie-Tooth disease axonal type 2C,
Charcot-Marie-Tooth disease, ...see more | Uncertain significance
(Jan 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110232160
- GRCh38:
- Chr12:109794355
| TRPV4 | A489T, A382T, A442T, A429T, A455T | Scapuloperoneal spinal muscular atrophy, Autosomal dominant congenital benign spinal muscular atrophy, Charcot-Marie-Tooth disease axonal type 2C,
Metatropic dysplasia, Brachyrachia (short spine dysplasia), Spondylometaphyseal dysplasia, Kozlowski type
| Conflicting interpretations of pathogenicity
(Sep 1, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:110230552
- GRCh38:
- Chr12:109792747
| TRPV4 | V577M, V470M, V517M, V543M, V530M | Scapuloperoneal spinal muscular atrophy, Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2C,
Spondylometaphyseal dysplasia, Kozlowski type, Metatropic dysplasia, Autosomal dominant congenital benign spinal muscular atrophy,
Brachyrachia (short spine dysplasia) | Conflicting interpretations of pathogenicity
(Oct 17, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:110231735
- GRCh38:
- Chr12:109793930
| TRPV4 | | Scapuloperoneal spinal muscular atrophy, Inborn genetic diseases, not provided,
Autosomal dominant congenital benign spinal muscular atrophy, Charcot-Marie-Tooth disease axonal type 2C, Spondylometaphyseal dysplasia, Kozlowski type,
Metatropic dysplasia, Brachyrachia (short spine dysplasia) | Conflicting interpretations of pathogenicity
(Oct 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:110252418
- GRCh38:
- Chr12:109814613
| TRPV4 | D62N, D28N | Inborn genetic diseases, Charcot-Marie-Tooth disease, Spondyloepimetaphyseal dysplasia, Maroteaux type,
Metatropic dysplasia, Parastremmatic dwarfism, Autosomal dominant congenital benign spinal muscular atrophy,
Scapuloperoneal spinal muscular atrophy, Avascular necrosis of femoral head, primary, 2, Familial digital arthropathy-brachydactyly,
Spondylometaphyseal dysplasia, Kozlowski type, Sodium serum level quantitative trait locus 1Charcot-Marie-Tooth disease axonal type 2C,
Brachyrachia (short spine dysplasia), Charcot-Marie-Tooth disease axonal type 2C, ...see more | Uncertain significance
(Sep 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110226251
- GRCh38:
- Chr12:109788446
| TRPV4 | T721R, T614R, T661R, T674R, T687R | Autosomal dominant congenital benign spinal muscular atrophy, Charcot-Marie-Tooth disease axonal type 2C, Scapuloperoneal spinal muscular atrophy,
Brachyrachia (short spine dysplasia), Spondylometaphyseal dysplasia, Kozlowski type, Metatropic dysplasia
| Uncertain significance
(Jul 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110236497
- GRCh38:
- Chr12:109798692
| TRPV4 | | Scapuloperoneal spinal muscular atrophy, Autosomal dominant congenital benign spinal muscular atrophy, Inborn genetic diseases,
Charcot-Marie-Tooth disease axonal type 2C, Brachyrachia (short spine dysplasia), Spondylometaphyseal dysplasia, Kozlowski type,
Metatropic dysplasia | Benign/Likely benign
(Sep 15, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110224531
- GRCh38:
- Chr12:109786726
| TRPV4 | R774C, R714C, R667C, R740C, R727C | Scapuloperoneal spinal muscular atrophy, Metatropic dysplasia, Autosomal dominant congenital benign spinal muscular atrophy,
Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2C, Brachyrachia (short spine dysplasia),
Spondylometaphyseal dysplasia, Kozlowski type | Conflicting interpretations of pathogenicity
(Sep 20, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:110230581
- GRCh38:
- Chr12:109792776
| TRPV4 | Y567F, Y507F, Y533F, Y460F, Y520F | Autosomal dominant congenital benign spinal muscular atrophy, Charcot-Marie-Tooth disease axonal type 2C, Brachyrachia (short spine dysplasia),
Charcot-Marie-Tooth disease, Scapuloperoneal spinal muscular atrophy, Spondylometaphyseal dysplasia, Kozlowski type,
Metatropic dysplasia, not provided, Inborn genetic diseases
| Conflicting interpretations of pathogenicity
(May 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:110232249
- GRCh38:
- Chr12:109794444
| TRPV4 | L459R, L425R, L399R, L412R, L352R | not provided, Spondyloepimetaphyseal dysplasia, Maroteaux type, Autosomal dominant congenital benign spinal muscular atrophy,
Scapuloperoneal spinal muscular atrophy, Brachyrachia (short spine dysplasia), Familial digital arthropathy-brachydactyly,
Parastremmatic dwarfism, Sodium serum level quantitative trait locus 1, Charcot-Marie-Tooth disease axonal type 2C,
Metatropic dysplasia, Spondylometaphyseal dysplasia, Kozlowski typeAvascular necrosis of femoral head, primary, 2,
Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2C, ...see more | Uncertain significance
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110240857
- GRCh38:
- Chr12:109803052
| TRPV4 | | Scapuloperoneal spinal muscular atrophy, Brachyrachia (short spine dysplasia), Spondylometaphyseal dysplasia, Kozlowski type,
Metatropic dysplasia, Autosomal dominant congenital benign spinal muscular atrophy, Charcot-Marie-Tooth disease axonal type 2C,
Inborn genetic diseases, not provided | Conflicting interpretations of pathogenicity
(Oct 5, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:110224547
- GRCh38:
- Chr12:109786742
| TRPV4 | | Charcot-Marie-Tooth disease, Inborn genetic diseases, Scapuloperoneal spinal muscular atrophy,
Connective tissue disorder, Charcot-Marie-Tooth disease axonal type 2C, Brachyrachia (short spine dysplasia),
Spondylometaphyseal dysplasia, Kozlowski type, not provided, Metatropic dysplasia,
Autosomal dominant congenital benign spinal muscular atrophy | Conflicting interpretations of pathogenicity
(Nov 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:110236613
- GRCh38:
- Chr12:109798808
| TRPV4 | R320*, R286*, R273* | not provided, Autosomal dominant congenital benign spinal muscular atrophy, Charcot-Marie-Tooth disease axonal type 2C,
Spondylometaphyseal dysplasia, Kozlowski type, Metatropic dysplasia, Brachyrachia (short spine dysplasia),
Scapuloperoneal spinal muscular atrophy, Inborn genetic diseases, Charcot-Marie-Tooth disease
| Conflicting interpretations of pathogenicity
(Aug 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:110224562
- GRCh38:
- Chr12:109786757
| TRPV4 | | Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2C, Metatropic dysplasia,
Autosomal dominant congenital benign spinal muscular atrophy, not specified, Scapuloperoneal spinal muscular atrophy,
Brachyrachia (short spine dysplasia), Spondylometaphyseal dysplasia, Kozlowski type | Benign/Likely benign
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110232227
- GRCh38:
- Chr12:109794422
| TRPV4 | | not provided, Inborn genetic diseases, not specified,
Spondylometaphyseal dysplasia, Kozlowski type, Metatropic dysplasia, Autosomal dominant congenital benign spinal muscular atrophy,
Charcot-Marie-Tooth disease axonal type 2C, Brachyrachia (short spine dysplasia), Scapuloperoneal spinal muscular atrophy
| Benign/Likely benign
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110246137
- GRCh38:
- Chr12:109808332
| TRPV4 | T175A, T141A | Inborn genetic diseases, Spondylometaphyseal dysplasia, Kozlowski type, Metatropic dysplasia,
Autosomal dominant congenital benign spinal muscular atrophy, Charcot-Marie-Tooth disease axonal type 2C, Brachyrachia (short spine dysplasia),
Charcot-Marie-Tooth disease, not provided, Scapuloperoneal spinal muscular atrophy
| Conflicting interpretations of pathogenicity
(Mar 30, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:110222154
- GRCh38:
- Chr12:109784349
| TRPV4 | G809S, G775S, G702S, G749S, G762S | Scapuloperoneal spinal muscular atrophy, Spondylometaphyseal dysplasia, Kozlowski type, Sodium serum level quantitative trait locus 1,
Charcot-Marie-Tooth disease axonal type 2C, Avascular necrosis of femoral head, primary, 2, Brachyrachia (short spine dysplasia),
Familial digital arthropathy-brachydactyly, Metatropic dysplasia, Parastremmatic dwarfism,
Spondyloepimetaphyseal dysplasia, Maroteaux type, Autosomal dominant congenital benign spinal muscular atrophynot specified,
Charcot-Marie-Tooth disease axonal type 2C, ...see more | Uncertain significance
(Aug 26, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110240939
- GRCh38:
- Chr12:109803134
| TRPV4 | T190M, T156M | Brachyrachia (short spine dysplasia), Scapuloperoneal spinal muscular atrophy, Avascular necrosis of femoral head, primary, 2,
Familial digital arthropathy-brachydactyly, Metatropic dysplasia, Parastremmatic dwarfism,
Spondyloepimetaphyseal dysplasia, Maroteaux type, Autosomal dominant congenital benign spinal muscular atrophy, Spondylometaphyseal dysplasia, Kozlowski type,
Sodium serum level quantitative trait locus 1, Charcot-Marie-Tooth disease axonal type 2Cnot provided,
...see more | Uncertain significance
(Oct 31, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110226437
- GRCh38:
- Chr12:109788632
| TRPV4 | S659L, S625L, S552L, S599L, S612L | Familial digital arthropathy-brachydactyly, Spondyloepimetaphyseal dysplasia, Maroteaux type, Sodium serum level quantitative trait locus 1,
Charcot-Marie-Tooth disease axonal type 2C, Brachyrachia (short spine dysplasia), Metatropic dysplasia,
Parastremmatic dwarfism, Spondylometaphyseal dysplasia, Kozlowski type, Autosomal dominant congenital benign spinal muscular atrophy,
Scapuloperoneal spinal muscular atrophy, Avascular necrosis of femoral head, primary, 2Inborn genetic diseases,
Charcot-Marie-Tooth disease, not provided, Charcot-Marie-Tooth disease axonal type 2C,
...see more | Conflicting interpretations of pathogenicity
(Aug 10, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:110236533
- GRCh38:
- Chr12:109798728
| TRPV4 | | Scapuloperoneal spinal muscular atrophy, not specified, Charcot-Marie-Tooth disease axonal type 2C,
Spondylometaphyseal dysplasia, Kozlowski type, Metatropic dysplasia, Autosomal dominant congenital benign spinal muscular atrophy,
Inborn genetic diseases, Brachyrachia (short spine dysplasia) | Conflicting interpretations of pathogenicity
(Jul 26, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:110231317
- GRCh38:
- Chr12:109793512
| TRPV4 | | Scapuloperoneal spinal muscular atrophy, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease axonal type 2C,
Metatropic dysplasia, not specified, Autosomal dominant congenital benign spinal muscular atrophy,
Brachyrachia (short spine dysplasia), Spondylometaphyseal dysplasia, Kozlowski type | Benign/Likely benign
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110221570
- GRCh38:
- Chr12:109783765
| TRPV4 | | Charcot-Marie-Tooth disease, not provided, Inborn genetic diseases,
Scapuloperoneal spinal muscular atrophy, Autosomal dominant congenital benign spinal muscular atrophy, Charcot-Marie-Tooth disease axonal type 2C,
Brachyrachia (short spine dysplasia), Spondylometaphyseal dysplasia, Kozlowski type, Metatropic dysplasia
| Benign/Likely benign
(Mar 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110271218
- GRCh38:
- Chr12:109833413
| MIR4497, TRPV4 | | Charcot-Marie-Tooth disease type 2, Metatropic dysplasia, Spondylometaphyseal dysplasia,
Brachyolmia, Scapuloperoneal spinal muscular atrophy, Autosomal dominant congenital benign spinal muscular atrophy
| Likely benign
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr12:110271197
- GRCh38:
- Chr12:109833392
| MIR4497, TRPV4 | | Scapuloperoneal spinal muscular atrophy, Charcot-Marie-Tooth disease axonal type 2C, Metatropic dysplasia,
Autosomal dominant congenital benign spinal muscular atrophy, Brachyrachia (short spine dysplasia), Spondylometaphyseal dysplasia, Kozlowski type
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:110252431
- GRCh38:
- Chr12:109814626
| TRPV4 | | Scapuloperoneal spinal muscular atrophy, Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2C,
Metatropic dysplasia, Autosomal dominant congenital benign spinal muscular atrophy, Brachyrachia (short spine dysplasia),
Spondylometaphyseal dysplasia, Kozlowski type | Conflicting interpretations of pathogenicity
(Jul 11, 2019) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:110252397
- GRCh38:
- Chr12:109814592
| TRPV4 | M69L, M35L | Connective tissue disorder, Charcot-Marie-Tooth disease, Scapuloperoneal spinal muscular atrophy,
Inborn genetic diseases, Autosomal dominant congenital benign spinal muscular atrophy, Charcot-Marie-Tooth disease axonal type 2C,
Metatropic dysplasia, Brachyrachia (short spine dysplasia), Spondylometaphyseal dysplasia, Kozlowski type
| Conflicting interpretations of pathogenicity
(Oct 30, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:110246233
- GRCh38:
- Chr12:109808428
| TRPV4 | P143T, P109T | Scapuloperoneal spinal muscular atrophy, Charcot-Marie-Tooth disease axonal type 2C, Autosomal dominant congenital benign spinal muscular atrophy,
Metatropic dysplasia, Spondylometaphyseal dysplasia, Kozlowski type, Brachyrachia (short spine dysplasia)
| Uncertain significance
(Aug 27, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110246159
- GRCh38:
- Chr12:109808354
| TRPV4 | | not provided, Scapuloperoneal spinal muscular atrophy, Inborn genetic diseases,
Charcot-Marie-Tooth disease axonal type 2C, Autosomal dominant congenital benign spinal muscular atrophy, Spondylometaphyseal dysplasia, Kozlowski type,
Metatropic dysplasia, Brachyrachia (short spine dysplasia) | Benign/Likely benign
(Sep 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110246111
- GRCh38:
- Chr12:109808306
| TRPV4 | | Charcot-Marie-Tooth disease, Scapuloperoneal spinal muscular atrophy, Inborn genetic diseases,
not specified, Autosomal dominant congenital benign spinal muscular atrophy, Spondylometaphyseal dysplasia, Kozlowski type,
Charcot-Marie-Tooth disease axonal type 2C, Metatropic dysplasia, Brachyrachia (short spine dysplasia)
| Benign/Likely benign
(Oct 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110240886
- GRCh38:
- Chr12:109803081
| TRPV4 | D208N, D174N | Scapuloperoneal spinal muscular atrophy, Charcot-Marie-Tooth disease axonal type 2C, Autosomal dominant congenital benign spinal muscular atrophy,
Spondylometaphyseal dysplasia, Kozlowski type, Metatropic dysplasia, Brachyrachia (short spine dysplasia)
| Uncertain significance
(Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110240858
- GRCh38:
- Chr12:109803053
| TRPV4 | A217V, A183V | Scapuloperoneal spinal muscular atrophy, Autosomal dominant congenital benign spinal muscular atrophy, Spondylometaphyseal dysplasia, Kozlowski type,
Charcot-Marie-Tooth disease axonal type 2C, Metatropic dysplasia, Brachyrachia (short spine dysplasia)
| Conflicting interpretations of pathogenicity
(Aug 26, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:110238516
- GRCh38:
- Chr12:109800711
| TRPV4 | V254M, V220M | Charcot-Marie-Tooth disease, Scapuloperoneal spinal muscular atrophy, Inborn genetic diseases,
not specified, Autosomal dominant congenital benign spinal muscular atrophy, Spondylometaphyseal dysplasia, Kozlowski type,
Brachyrachia (short spine dysplasia), Charcot-Marie-Tooth disease axonal type 2C, Metatropic dysplasia
| Benign/Likely benign
(Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110236722
- GRCh38:
- Chr12:109798917
| TRPV4 | | not specified, not provided, Scapuloperoneal spinal muscular atrophy,
Metatropic dysplasia, Autosomal dominant congenital benign spinal muscular atrophy, Brachyrachia (short spine dysplasia),
Spondylometaphyseal dysplasia, Kozlowski type, Charcot-Marie-Tooth disease, Parastremmatic dwarfism,
Sodium serum level quantitative trait locus 1, Charcot-Marie-Tooth disease axonal type 2CBrachyrachia (short spine dysplasia),
Spondylometaphyseal dysplasia, Kozlowski type, Autosomal dominant congenital benign spinal muscular atrophy, Avascular necrosis of femoral head, primary, 2,
Metatropic dysplasia, Spondyloepimetaphyseal dysplasia, Maroteaux type, Scapuloperoneal spinal muscular atrophy,
Familial digital arthropathy-brachydactyly, Connective tissue disorder, Charcot-Marie-Tooth disease axonal type 2C,
...see more | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110236635
- GRCh38:
- Chr12:109798830
| TRPV4 | | Scapuloperoneal spinal muscular atrophy, Charcot-Marie-Tooth disease, Inborn genetic diseases,
Autosomal dominant congenital benign spinal muscular atrophy, Spondylometaphyseal dysplasia, Kozlowski type, Charcot-Marie-Tooth disease axonal type 2C,
Metatropic dysplasia, Brachyrachia (short spine dysplasia) | Benign/Likely benign
(Jul 11, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110236608
- GRCh38:
- Chr12:109798803
| TRPV4 | | Scapuloperoneal spinal muscular atrophy, Inborn genetic diseases, Autosomal dominant congenital benign spinal muscular atrophy,
Spondylometaphyseal dysplasia, Kozlowski type, Charcot-Marie-Tooth disease axonal type 2C, Metatropic dysplasia,
Brachyrachia (short spine dysplasia) | Conflicting interpretations of pathogenicity
(Sep 7, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:110236478
- GRCh38:
- Chr12:109798673
| TRPV4 | V365M, V318M, V331M | not provided, Scapuloperoneal spinal muscular atrophy, Inborn genetic diseases,
Autosomal dominant congenital benign spinal muscular atrophy, Spondylometaphyseal dysplasia, Kozlowski type, Charcot-Marie-Tooth disease axonal type 2C,
Metatropic dysplasia, Brachyrachia (short spine dysplasia) | Benign/Likely benign
(Sep 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110234451
- GRCh38:
- Chr12:109796646
| TRPV4 | R404H, R357H, R370H | Scapuloperoneal spinal muscular atrophy, not provided, Autosomal dominant congenital benign spinal muscular atrophy,
Spondylometaphyseal dysplasia, Kozlowski type, Charcot-Marie-Tooth disease axonal type 2C, Metatropic dysplasia,
Brachyrachia (short spine dysplasia) | Conflicting interpretations of pathogenicity
(Sep 21, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:110232273
- GRCh38:
- Chr12:109794468
| TRPV4 | A451V, A391V, A404V, A417V, A344V | Scapuloperoneal spinal muscular atrophy, Spondylometaphyseal dysplasia, Kozlowski type, Charcot-Marie-Tooth disease axonal type 2C,
Autosomal dominant congenital benign spinal muscular atrophy, Metatropic dysplasia, Brachyrachia (short spine dysplasia)
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:110232170
- GRCh38:
- Chr12:109794365
| TRPV4 | | Scapuloperoneal spinal muscular atrophy, Inborn genetic diseases, Brachyrachia (short spine dysplasia),
Charcot-Marie-Tooth disease axonal type 2C, Autosomal dominant congenital benign spinal muscular atrophy, Metatropic dysplasia,
Spondylometaphyseal dysplasia, Kozlowski type | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110231722
- GRCh38:
- Chr12:109793917
| TRPV4 | | Scapuloperoneal spinal muscular atrophy, not provided, Metatropic dysplasia,
Brachyrachia (short spine dysplasia), Charcot-Marie-Tooth disease axonal type 2C, Autosomal dominant congenital benign spinal muscular atrophy,
Spondylometaphyseal dysplasia, Kozlowski type | Benign/Likely benign
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110231389
- GRCh38:
- Chr12:109793584
| TRPV4 | M534T, M474T, M500T, M487T, M427T | Scapuloperoneal spinal muscular atrophy, Metatropic dysplasia, Brachyrachia (short spine dysplasia),
Charcot-Marie-Tooth disease axonal type 2C, Autosomal dominant congenital benign spinal muscular atrophy, Spondylometaphyseal dysplasia, Kozlowski type
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:110230485
- GRCh38:
- Chr12:109792680
| TRPV4 | T599R, T492R, T552R, T565R, T539R | Scapuloperoneal spinal muscular atrophy, Charcot-Marie-Tooth disease axonal type 2C, Metatropic dysplasia,
Spondylometaphyseal dysplasia, Kozlowski type, Brachyrachia (short spine dysplasia), Autosomal dominant congenital benign spinal muscular atrophy
| Uncertain significance
(Aug 26, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110230249
- GRCh38:
- Chr12:109792444
| TRPV4 | | Scapuloperoneal spinal muscular atrophy, Autosomal dominant congenital benign spinal muscular atrophy, Brachyrachia (short spine dysplasia),
Charcot-Marie-Tooth disease, not specified, Spondylometaphyseal dysplasia, Kozlowski type,
not provided, Charcot-Marie-Tooth disease axonal type 2C, Metatropic dysplasia
| Conflicting interpretations of pathogenicity
(Oct 26, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:110230249
- GRCh38:
- Chr12:109792444
| TRPV4 | | Scapuloperoneal spinal muscular atrophy, Autosomal dominant congenital benign spinal muscular atrophy, Brachyrachia (short spine dysplasia),
Charcot-Marie-Tooth disease, Spondylometaphyseal dysplasia, Kozlowski type, not specified,
not provided, Charcot-Marie-Tooth disease axonal type 2C, Metatropic dysplasia
| Benign/Likely benign
(Oct 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110226370
- GRCh38:
- Chr12:109788565
| TRPV4 | | not specified, not provided, Inborn genetic diseases,
Charcot-Marie-Tooth disease, Brachyrachia (short spine dysplasia), Scapuloperoneal spinal muscular atrophy,
Charcot-Marie-Tooth disease axonal type 2C, Metatropic dysplasia, Autosomal dominant congenital benign spinal muscular atrophy,
Spondylometaphyseal dysplasia, Kozlowski type | Benign/Likely benign
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110224615
- GRCh38:
- Chr12:109786810
| TRPV4 | R746G, R686G, R699G, R639G, R712G | Scapuloperoneal spinal muscular atrophy, Charcot-Marie-Tooth disease axonal type 2C, Autosomal dominant congenital benign spinal muscular atrophy,
Metatropic dysplasia, Spondylometaphyseal dysplasia, Kozlowski type, Brachyrachia (short spine dysplasia)
| Uncertain significance
(Jul 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110221558
- GRCh38:
- Chr12:109783753
| TRPV4 | | Charcot-Marie-Tooth disease type 2, Brachyolmia, not provided,
Scapuloperoneal spinal muscular atrophy, Spondylometaphyseal dysplasia, Inborn genetic diseases,
Metatropic dysplasia, Autosomal dominant congenital benign spinal muscular atrophy, Charcot-Marie-Tooth disease axonal type 2C
| Likely benign
(Apr 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110221525
- GRCh38:
- Chr12:109783720
| TRPV4 | | Scapuloperoneal spinal muscular atrophy, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease axonal type 2C,
Metatropic dysplasia, Brachyrachia (short spine dysplasia), Autosomal dominant congenital benign spinal muscular atrophy,
Spondylometaphyseal dysplasia, Kozlowski type | Benign/Likely benign
(Aug 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110221375
- GRCh38:
- Chr12:109783570
| TRPV4 | | Scapuloperoneal spinal muscular atrophy, Charcot-Marie-Tooth disease axonal type 2C, Metatropic dysplasia,
Brachyrachia (short spine dysplasia), Autosomal dominant congenital benign spinal muscular atrophy, Spondylometaphyseal dysplasia, Kozlowski type
| Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:110221327
- GRCh38:
- Chr12:109783522
| TRPV4 | | Scapuloperoneal spinal muscular atrophy, Charcot-Marie-Tooth disease axonal type 2C, Metatropic dysplasia,
Autosomal dominant congenital benign spinal muscular atrophy, Brachyrachia (short spine dysplasia), Spondylometaphyseal dysplasia, Kozlowski type
| Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:110221214
- GRCh38:
- Chr12:109783409
| TRPV4 | | Scapuloperoneal spinal muscular atrophy, Charcot-Marie-Tooth disease axonal type 2C, Metatropic dysplasia,
Brachyrachia (short spine dysplasia), Autosomal dominant congenital benign spinal muscular atrophy, Spondylometaphyseal dysplasia, Kozlowski type
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:110221196
- GRCh38:
- Chr12:109783391
| TRPV4 | | Scapuloperoneal spinal muscular atrophy, Charcot-Marie-Tooth disease axonal type 2C, Autosomal dominant congenital benign spinal muscular atrophy,
Metatropic dysplasia, Spondylometaphyseal dysplasia, Kozlowski type, Brachyrachia (short spine dysplasia)
| Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:110221061
- GRCh38:
- Chr12:109783256
| TRPV4 | | Scapuloperoneal spinal muscular atrophy, Charcot-Marie-Tooth disease axonal type 2C, Metatropic dysplasia,
Autosomal dominant congenital benign spinal muscular atrophy, Spondylometaphyseal dysplasia, Kozlowski type, Brachyrachia (short spine dysplasia)
| Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:110221048
- GRCh38:
- Chr12:109783243
| TRPV4 | | Scapuloperoneal spinal muscular atrophy, Charcot-Marie-Tooth disease axonal type 2C, Metatropic dysplasia,
Autosomal dominant congenital benign spinal muscular atrophy, Spondylometaphyseal dysplasia, Kozlowski type, Brachyrachia (short spine dysplasia)
| Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:110221021
- GRCh38:
- Chr12:109783216
| TRPV4 | | Scapuloperoneal spinal muscular atrophy, Charcot-Marie-Tooth disease axonal type 2C, Metatropic dysplasia,
Brachyrachia (short spine dysplasia), Autosomal dominant congenital benign spinal muscular atrophy, Spondylometaphyseal dysplasia, Kozlowski type
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:110221003
- GRCh38:
- Chr12:109783198
| TRPV4 | | not provided, Spondylometaphyseal dysplasia, Kozlowski type, Metatropic dysplasia,
Charcot-Marie-Tooth disease axonal type 2C, Brachyrachia (short spine dysplasia), Scapuloperoneal spinal muscular atrophy,
Autosomal dominant congenital benign spinal muscular atrophy | Benign/Likely benign
(Jun 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110220940
- GRCh38:
- Chr12:109783135
| TRPV4 | | Scapuloperoneal spinal muscular atrophy, Autosomal dominant congenital benign spinal muscular atrophy, Charcot-Marie-Tooth disease axonal type 2C,
Metatropic dysplasia, Brachyrachia (short spine dysplasia), Spondylometaphyseal dysplasia, Kozlowski type
| Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:110230453
- GRCh38:
- Chr12:109792648
| TRPV4 | | not provided, Charcot-Marie-Tooth disease, not specified,
Scapuloperoneal spinal muscular atrophy, Autosomal dominant congenital benign spinal muscular atrophy, Charcot-Marie-Tooth disease axonal type 2C,
Brachyrachia (short spine dysplasia), Spondylometaphyseal dysplasia, Kozlowski type, Metatropic dysplasia
| Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110232124
- GRCh38:
- Chr12:109794319
| TRPV4 | | Charcot-Marie-Tooth disease, not specified, not provided,
Scapuloperoneal spinal muscular atrophy, Autosomal dominant congenital benign spinal muscular atrophy, Charcot-Marie-Tooth disease axonal type 2C,
Brachyrachia (short spine dysplasia), Spondylometaphyseal dysplasia, Kozlowski type, Metatropic dysplasia
| Conflicting interpretations of pathogenicity
(Nov 2, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:110240838
- GRCh38:
- Chr12:109803033
| TRPV4 | | Charcot-Marie-Tooth disease, not specified, Scapuloperoneal spinal muscular atrophy,
Charcot-Marie-Tooth disease axonal type 2C, Metatropic dysplasia, Autosomal dominant congenital benign spinal muscular atrophy,
Brachyrachia (short spine dysplasia), not provided, Spondylometaphyseal dysplasia, Kozlowski type
| Benign
(Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110221592
- GRCh38:
- Chr12:109783787
| TRPV4 | | Spondylometaphyseal dysplasia, Kozlowski type, not provided, Scapuloperoneal spinal muscular atrophy,
Brachyrachia (short spine dysplasia), Charcot-Marie-Tooth disease axonal type 2C, Connective tissue disorder,
Charcot-Marie-Tooth disease, not specified, Autosomal dominant congenital benign spinal muscular atrophy,
Metatropic dysplasia | Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110230537
- GRCh38:
- Chr12:109792732
| TRPV4 | | Scapuloperoneal spinal muscular atrophy, Autosomal dominant congenital benign spinal muscular atrophy, Spondylometaphyseal dysplasia, Kozlowski type,
Brachyrachia (short spine dysplasia), Connective tissue disorder, not specified,
not provided, Charcot-Marie-Tooth disease axonal type 2C, Inborn genetic diseases,
Charcot-Marie-Tooth disease, Metatropic dysplasia ...see more | Benign/Likely benign
(Oct 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110221482
- GRCh38:
- Chr12:109783677
| TRPV4 | D854N, D794N, D807N, D747N, D820N | not provided, Scapuloperoneal spinal muscular atrophy, Metatropic dysplasia,
Autosomal dominant congenital benign spinal muscular atrophy, Spondylometaphyseal dysplasia, Kozlowski type, Brachyrachia (short spine dysplasia),
Charcot-Marie-Tooth disease axonal type 2C | Uncertain significance
(Aug 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110221571
- GRCh38:
- Chr12:109783766
| TRPV4 | S824L, S717L, S764L, S777L, S790L | Familial digital arthropathy-brachydactyly, Scapuloperoneal spinal muscular atrophy, Brachyrachia (short spine dysplasia),
Spondylometaphyseal dysplasia, Kozlowski type, Metatropic dysplasia, Spondyloepimetaphyseal dysplasia, Maroteaux type,
Autosomal dominant congenital benign spinal muscular atrophy, Avascular necrosis of femoral head, primary, 2, Parastremmatic dwarfism,
Sodium serum level quantitative trait locus 1, Charcot-Marie-Tooth disease axonal type 2Cnot provided,
...see more | Uncertain significance
(Feb 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110246258
- GRCh38:
- Chr12:109808453
| TRPV4 | S134R, S100R | Inborn genetic diseases, not provided, Scapuloperoneal spinal muscular atrophy,
Metatropic dysplasia, Spondylometaphyseal dysplasia, Kozlowski type, Charcot-Marie-Tooth disease axonal type 2C,
Autosomal dominant congenital benign spinal muscular atrophy, Brachyrachia (short spine dysplasia) | Benign/Likely benign
(Sep 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110232235
- GRCh38:
- Chr12:109794430
| TRPV4 | R464C, R404C, R417C, R430C, R357C | not provided, Brachyrachia (short spine dysplasia), Scapuloperoneal spinal muscular atrophy,
Charcot-Marie-Tooth disease axonal type 2C, Autosomal dominant congenital benign spinal muscular atrophy, Metatropic dysplasia,
Spondylometaphyseal dysplasia, Kozlowski type | Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:110236432
- GRCh38:
- Chr12:109798627
| TRPV4 | T380M, T346M, T333M | Inborn genetic diseases, not provided, Scapuloperoneal spinal muscular atrophy,
Metatropic dysplasia, Spondylometaphyseal dysplasia, Kozlowski type, Charcot-Marie-Tooth disease axonal type 2C,
Autosomal dominant congenital benign spinal muscular atrophy, Brachyrachia (short spine dysplasia) | Conflicting interpretations of pathogenicity
(Jul 30, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:110252565
- GRCh38:
- Chr12:109814760
| TRPV4 | G13W | Charcot-Marie-Tooth disease axonal type 2C, Inborn genetic diseases, Scapuloperoneal spinal muscular atrophy,
Metatropic dysplasia, Charcot-Marie-Tooth disease, not provided,
Spondylometaphyseal dysplasia, Kozlowski type, Brachyrachia (short spine dysplasia), Autosomal dominant congenital benign spinal muscular atrophy
| Uncertain significance
(Sep 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110231780
- GRCh38:
- Chr12:109793975
| TRPV4 | | Charcot-Marie-Tooth disease, not provided, Spondylometaphyseal dysplasia, Kozlowski type,
Charcot-Marie-Tooth disease axonal type 2C, Brachyrachia (short spine dysplasia), Scapuloperoneal spinal muscular atrophy,
Autosomal dominant congenital benign spinal muscular atrophy, Metatropic dysplasia | Benign/Likely benign
(Oct 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110252521
- GRCh38:
- Chr12:109814716
| TRPV4 | | Spondylometaphyseal dysplasia, Kozlowski type, Brachyrachia (short spine dysplasia), not specified,
Scapuloperoneal spinal muscular atrophy, Charcot-Marie-Tooth disease axonal type 2C, Metatropic dysplasia,
Autosomal dominant congenital benign spinal muscular atrophy, Charcot-Marie-Tooth disease, not provided
| Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110246277
- GRCh38:
- Chr12:109808472
| TRPV4 | | Spondylometaphyseal dysplasia, Kozlowski type, Charcot-Marie-Tooth disease axonal type 2C, Brachyrachia (short spine dysplasia),
not specified, not provided, Scapuloperoneal spinal muscular atrophy,
Charcot-Marie-Tooth disease, Autosomal dominant congenital benign spinal muscular atrophy, Metatropic dysplasia
| Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110230568
- GRCh38:
- Chr12:109792763
| TRPV4 | I571M, I464M, I524M, I511M, I537M | Spondylometaphyseal dysplasia, Kozlowski type, Brachyrachia (short spine dysplasia), Scapuloperoneal spinal muscular atrophy,
Charcot-Marie-Tooth disease axonal type 2C, Autosomal dominant congenital benign spinal muscular atrophy, Connective tissue disorder,
Charcot-Marie-Tooth disease, not specified, not provided,
Metatropic dysplasia | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110232284
- GRCh38:
- Chr12:109794479
| TRPV4 | | Spondylometaphyseal dysplasia, Kozlowski type, not provided, Charcot-Marie-Tooth disease axonal type 2C,
Brachyrachia (short spine dysplasia), Inborn genetic diseases, Scapuloperoneal spinal muscular atrophy,
Autosomal dominant congenital benign spinal muscular atrophy, not specified, Metatropic dysplasia
| Benign/Likely benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110238466
- GRCh38:
- Chr12:109800661
| TRPV4 | | Charcot-Marie-Tooth disease, Scapuloperoneal spinal muscular atrophy, not provided,
Charcot-Marie-Tooth disease axonal type 2C, Metatropic dysplasia, Autosomal dominant congenital benign spinal muscular atrophy,
Connective tissue disorder, Inborn genetic diseases, Spondylometaphyseal dysplasia, Kozlowski type,
Brachyrachia (short spine dysplasia) | Benign/Likely benign
(Oct 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110222146
- GRCh38:
- Chr12:109784341
| TRPV4 | | Charcot-Marie-Tooth disease, not specified, Scapuloperoneal spinal muscular atrophy,
Autosomal dominant congenital benign spinal muscular atrophy, Charcot-Marie-Tooth disease axonal type 2C, Inborn genetic diseases,
Metatropic dysplasia, Brachyrachia (short spine dysplasia), Connective tissue disorder,
not provided, Spondylometaphyseal dysplasia, Kozlowski type ...see more | Benign/Likely benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110221437
- GRCh38:
- Chr12:109783632
| TRPV4 | A869T, A762T, A809T, A822T, A835T | Inborn genetic diseases, Scapuloperoneal spinal muscular atrophy, Connective tissue disorder,
not provided, Brachyrachia (short spine dysplasia), Autosomal dominant congenital benign spinal muscular atrophy,
Spondylometaphyseal dysplasia, Kozlowski type, Metatropic dysplasia, Charcot-Marie-Tooth disease axonal type 2C
| Conflicting interpretations of pathogenicity
(Nov 14, 2022) | criteria provided, conflicting interpretations |